"An integrated map of genetic variation from 1,092 human genomes"
Here's the abstract and link to the paper:
ABSTRACT:
By characterizing the geographic and functional spectrum of human genetic
variation, the 1000 Genomes Project aims to build a resource to help to
understand the genetic contribution to disease. Here we describe the genomes of
1,092 individuals from 14 populations, constructed using a combination of
low-coverage whole-genome and exome sequencing. By developing methods to
integrate information across several algorithms and diverse data sources, we
provide a validated haplotype map of 38 million single nucleotide polymorphisms,
1.4 million short insertions and deletions, and more than 14,000 larger
deletions. We show that individuals from different populations carry different
profiles of rare and common variants, and that low-frequency variants show
substantial geographic differentiation, which is further increased by the action
of purifying selection. We show that evolutionary conservation and coding
consequence are key determinants of the strength of purifying selection, that
rare-variant load varies substantially across biological pathways, and that each
individual contains hundreds of rare non-coding variants at conserved sites,
such as motif-disrupting changes in transcription-factor-binding sites. This
resource, which captures up to 98% of accessible single nucleotide polymorphisms
at a frequency of 1% in related populations, enables analysis of common and
low-frequency variants in individuals from diverse, including admixed,
populations.
http://www.nature.com/nature/journal...ture11632.html
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